Varaico: Literature-Extracted Genetic Variants

Gene:FCN1
Variant:p.E95D

FCN1

88 papers

RefSeq Summary

The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The colla...

Pfam Domains

Collagenaa 50–110UCSCCollagen triple helix repeat (20 copies)
Fibrinogen_Caa 114–326UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

ficolin 1

HGNC Alias Symbol

FCNM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002003.5
p.E95D
c.285G>T
Surrounding Variants
1 paper
NM_002003.5
p.E95D
c.285G>C
1 paper
NM_002003.5
p.K96N
c.288G>T
1 paper
NM_002003.5
p.K96N
c.288G>C
1 paper
NM_002003.5
p.G97W
c.289G>T
2 papers
NM_002003.5
p.R93Q
c.278G>A
2 papers
NM_002003.5
p.R99H
c.296G>A
4 papers
NM_002003.5
p.G91insFs
c.271_272insT
1 paper
NM_002003.5
p.K90E
c.268A>G
1 paper
NM_002003.5
p.P89H
c.266C>A
1 paper
NM_002003.5
p.A105V
c.314C>T
1 paper
NM_002003.5
p.Q109*
c.325C>T
1 paper
NM_002003.5
p.N117S
c.350A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."